NEDMABA
MCID: NRD081
MIFTS: 23

Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies (NEDMABA)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

Name: Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 57 73 6 17
Nedmaba 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy may occur


HPO:

31
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

OMIM® : 57 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). (618622) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies, is also known as nedmaba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies is SMPD4 (Sphingomyelin Phosphodiesterase 4). Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are short neck and diabetes mellitus

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies: An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise.

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 short neck 31 very rare (1%) HP:0000470
2 diabetes mellitus 31 very rare (1%) HP:0000819
3 global developmental delay 31 very rare (1%) HP:0001263
4 depressed nasal bridge 31 very rare (1%) HP:0005280
5 mandibular prognathia 31 very rare (1%) HP:0000303
6 smooth philtrum 31 very rare (1%) HP:0000319
7 hypertonia 31 very rare (1%) HP:0001276
8 intrauterine growth retardation 31 very rare (1%) HP:0001511
9 wide intermamillary distance 31 very rare (1%) HP:0006610
10 epicanthus 31 very rare (1%) HP:0000286
11 neonatal respiratory distress 31 very rare (1%) HP:0002643
12 downslanted palpebral fissures 31 very rare (1%) HP:0000494
13 highly arched eyebrow 31 very rare (1%) HP:0002553
14 thin upper lip vermilion 31 very rare (1%) HP:0000219
15 protruding ear 31 very rare (1%) HP:0000411
16 deep philtrum 31 very rare (1%) HP:0002002
17 low anterior hairline 31 very rare (1%) HP:0000294
18 short philtrum 31 very rare (1%) HP:0000322
19 bulbous nose 31 very rare (1%) HP:0000414
20 adducted thumb 31 very rare (1%) HP:0001181
21 thin vermilion border 31 very rare (1%) HP:0000233
22 hypotelorism 31 very rare (1%) HP:0000601
23 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
24 premature birth 31 very rare (1%) HP:0001622
25 tented upper lip vermilion 31 very rare (1%) HP:0010804
26 cerebellar hypoplasia 31 very rare (1%) HP:0001321
27 bilateral cleft lip 31 very rare (1%) HP:0100336
28 bifid uvula 31 very rare (1%) HP:0000193
29 sloping forehead 31 very rare (1%) HP:0000340
30 single transverse palmar crease 31 very rare (1%) HP:0000954
31 rocker bottom foot 31 very rare (1%) HP:0001838
32 posteriorly rotated ears 31 very rare (1%) HP:0000358
33 short palpebral fissure 31 very rare (1%) HP:0012745
34 narrow forehead 31 very rare (1%) HP:0000341
35 cns hypomyelination 31 very rare (1%) HP:0003429
36 hypoplasia of the brainstem 31 very rare (1%) HP:0002365
37 progressive microcephaly 31 very rare (1%) HP:0000253
38 birth length less than 3rd percentile 31 very rare (1%) HP:0003561
39 lumbar hypertrichosis 31 very rare (1%) HP:0011913
40 seizure 31 very rare (1%) HP:0001250
41 hypotonia 31 very rare (1%) HP:0001252
42 simplified gyral pattern 31 very rare (1%) HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Head And Neck Face:
smooth philtrum
short philtrum
receding forehead

Growth Other:
intrauterine growth retardation
poor overall growth

Cardiovascular Heart:
dilated cardiomyopathy
patent ductus arteriosus
congenital heart defects (in some patients)
septal defects

Abdomen Gastrointestinal:
feeding difficulties
swallowing difficulties
tube feeding

Respiratory:
respiratory distress

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
short palpebral fissures

Prenatal Manifestations Delivery:
preterm delivery

Respiratory Larynx:
laryngomalacia (in some patients)

Head And Neck Nose:
depressed nasal bridge

Muscle Soft Tissue:
hypertonia
hypotonia

Head And Neck Ears:
low-set ears
large ears
simple helices

Neurologic Central Nervous System:
cerebellar hypoplasia
inability to walk
simplified gyral pattern
seizures (in some patients)
delayed walking
more
Skeletal Hands:
single transverse palmar crease
camptodactyly
clenched hands

Head And Neck Mouth:
cleft lip
thin upper lip

Skeletal Feet:
rocker-bottom feet
clubfoot

Skeletal:
arthrogryposis, congenital

Head And Neck Head:
microcephaly, congenital, progressive (down to -7 sd)

Clinical features from OMIM®:

618622 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

40
Brain, Cortex, Cerebellum, Heart

Publications for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Articles related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

# Title Authors PMID Year
1
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. 57 6
31495489 2019

Variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD4 NM_017751.4(SMPD4):c.1320-9G>A SNV Pathogenic 691968 rs766318490 2:130912841-130912841 2:130155268-130155268
2 SMPD4 NM_017751.4(SMPD4):c.1483+1G>A SNV Pathogenic 691969 rs1391542283 2:130912668-130912668 2:130155095-130155095
3 SMPD4 NM_017751.4(SMPD4):c.462+1G>T SNV Pathogenic 691970 rs780446128 2:130930851-130930851 2:130173278-130173278
4 SMPD4 NM_017751.4(SMPD4):c.1386_1392del (p.Leu463fs) Deletion Pathogenic 691973 rs1573664291 2:130912760-130912766 2:130155187-130155193
5 SMPD4 NM_017951.4(SMPD4):c.370G>T (p.Glu124Ter) SNV Likely pathogenic 870337 2:130931103-130931103 2:130173530-130173530
6 SMPD4 NM_017951.4(SMPD4):c.692T>C (p.Leu231Pro) SNV Likely pathogenic 870338 2:130930006-130930006 2:130172433-130172433
7 SMPD4 NM_017951.4(SMPD4):c.199C>T (p.Gln67Ter) SNV Likely pathogenic 691971 rs1573728266 2:130932531-130932531 2:130174958-130174958
8 SMPD4 NM_017951.4(SMPD4):c.1337C>T (p.Pro446Leu) SNV Uncertain significance 691972 rs747433356 2:130913677-130913677 2:130156104-130156104
9 SMPD4 NM_017951.4(SMPD4):c.2281C>T (p.Gln761Ter) SNV Uncertain significance 870339 2:130910448-130910448 2:130152875-130152875
10 SMPD4 NM_017951.4(SMPD4):c.1982C>T (p.Ala661Val) SNV Uncertain significance 870336 2:130911303-130911303 2:130153730-130153730

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

73
# Symbol AA change Variation ID SNP ID
1 SMPD4 p.Leu231Pro VAR_083331

Expression for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies.

Pathways for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Sources for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....